Author Brockmann, Knut

1 to 85 of 85 Items
  • 2001 Journal Article
    ​ ​Endocrinological study on growth retardation in Rett syndrome​
    Huppke, P.; Roth, C.; Christen, H.-J.; Brockmann, K. & Hanefeld, F.​ (2001) 
    Acta Paediatrica90(11) pp. 1257​-1261​.​
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  • 2001 Journal Article
    ​ ​Myelinopathia centralis diffusa (vanishing white matter disease): Evidence of apoptotic oligodendrocyte degeneration in early lesion development​
    Bruck, W. W.; Herms, J.; Brockmann, K.; Schulz-Schaeffer, W. J. & Hanefeld, F.​ (2001) 
    Annals of Neurology50(4) pp. 532​-536​.​ DOI: https://doi.org/10.1002/ana.1227 
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  • 2001 Journal Article | Letter Note
    ​ ​Progressive elevation of liver enzymes in a child treated with sulthiame​
    Brockmann, K. & Hanefeld, F.​ (2001) 
    Neuropediatrics32(3) pp. 165​-166​.​ DOI: https://doi.org/10.1055/s-2001-16617 
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  • 2001 Journal Article
    ​ ​Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy​
    Brockmann, K.; Wang, D.; Korenke, C. G.; von Moers, A. ; Ho, Y. Y.; Pascual, J. M. & Kuang, K. et al.​ (2001) 
    Annals of Neurology50(4) pp. 476​-485​.​ DOI: https://doi.org/10.1002/ana.1222 
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  • 2002 Journal Article
    ​ ​Eosinophilic fasciitis leading to painless contractures​
    Huppke, P.; Wilken, B.; Brockmann, K.; Sattler, B. & Hanefeld, F.​ (2002) 
    European Journal of Pediatrics161(10) pp. 528​-530​.​ DOI: https://doi.org/10.1007/s00431-002-1038-1 
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  • 2002 Journal Article | Letter Note
    ​ ​Juvenile horseplay purpura​
    Brockmann, K. & Diepold, K.​ (2002) 
    ARCHIVES OF DERMATOLOGY138(10).​ DOI: https://doi.org/10.1001/archderm.138.10.1384 
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  • 2002 Journal Article
    ​ ​Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency​
    Brockmann, K.; Bjornstad, A.; Dechent, P.; Korenke, C. G.; Smeitink, J.; Trijbels, J. & Athanassopoulos, S. et al.​ (2002) 
    Annals of Neurology52(1) pp. 38​-46​.​ DOI: https://doi.org/10.1002/ana.10232 
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  • 2002 Journal Article
    ​ ​Infantile Alexander disease: A GFAP mutation in monozygotic twins and novel mutations in two other patients​
    Meins, M.; Brockmann, K.; Yadav, S.; Haupt, M.; Sperner, J.; Stephani, U. & Hanefeld, F.​ (2002) 
    Neuropediatrics33(4) pp. 194​-198​.​ DOI: https://doi.org/10.1055/s-2002-34495 
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  • 2002 Journal Article
    ​ ​EEG features of Glut-1 deficiency syndrome​
    von Moers, A.; Brockmann, K.; Wang, D.; Korenke, C. G.; Huppke, P.; De Vivo, D. C. & Hanefeld, F.​ (2002) 
    Epilepsia43(8) pp. 941​-945​.​ DOI: https://doi.org/10.1046/j.1528-1157.2002.50401.x 
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  • 2003 Journal Article
    ​ ​Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation​
    Wilken, B.; Dechent, P.; Brockmann, K.; Finsterbusch, J.; Baumann, M.; Ebell, W. & Korenke, C. G. et al.​ (2003) 
    Neuropediatrics34(5) pp. 237​-246​.​
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  • 2003 Journal Article
    ​ ​Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI​
    Brockmann, K.; Finsterbusch, J.; Terwey, B.; Frahm, J.   & Hanefeld, F.​ (2003) 
    Neuroradiology45(3) pp. 137​-142​.​ DOI: https://doi.org/10.1007/s00234-002-0931-7 
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  • 2003 Journal Article
    ​ ​Progressive muscle weakness after high-dose steroids in two children with CIDP​
    Rostasy, K.; Diepold, K.; Buckard, J. A.; Brockmann, K.; Wilken, B. & Hanefeld, F.​ (2003) 
    Pediatric Neurology29(3) pp. 236​-238​.​ DOI: https://doi.org/10.1016/S0887-8994(03)00222-4 
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  • 2003 Journal Article
    ​ ​Deep cerebral venous sinus thrombosis often presents with neuropsychologic symptoms​
    von Mering, M.; Stiefel, M.; Brockmann, K. & Nau, R.​ (2003) 
    Journal of Clinical Neuroscience10(3) pp. 310​-312​.​ DOI: https://doi.org/10.1016/S0967-5868(03)00017-1 
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  • 2003 Journal Article
    ​ ​Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy​
    Baumann, M.; Korenke, C.; Weddige-Diedrichs, A. ; Wilichowski, E.; Hunneman, D. H.; Wilken, B. & Brockmann, K. et al.​ (2003) 
    European Journal of Pediatrics162(1) pp. 6​-14​.​ DOI: https://doi.org/10.1007/s00431-002-1097-3 
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  • 2003 Journal Article
    ​ ​Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy​
    Brockmann, K.; Pouwels, P. J.; Dechent, P.; Flanigan, K. M.; Frahm, J. & Hanefeld, F.​ (2003) 
    Brain and Development25(1) pp. 45​-50​.​ DOI: https://doi.org/10.1016/s0387-7604(02)00154-7 
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  • 2003 Journal Article
    ​ ​A novel GFAP mutation and disseminated white matter lesions: Adult Alexander disease?​
    Brockmann, K.; Meins, M.; Taubert, A.; Trappe, R.; Grond, M. & Hanefeld, F.​ (2003) 
    European Neurology50(2) pp. 100​-105​.​ DOI: https://doi.org/10.1159/000072507 
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  • 2004 Journal Article | Letter Note
    ​ ​Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for Krabbe disease​
    Li, Y. J.; Brockmann, K.; Turecek, F.; Scott, C. R. & Gelb, M. H.​ (2004) 
    Clinical Chemistry50(3) pp. 638​-640​.​ DOI: https://doi.org/10.1373/clinchem.2003.028381 
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  • 2004 Journal Article
    ​ ​Tarsal tunnel syndrome in a 7-year-old boy​
    Brockmann, K.; Schneider-Sickert, F.; Kolenda, H.; Aden, I. & Hanefeld, F.​ (2004) 
    European Journal of Pediatrics163(1) pp. 46​-47​.​ DOI: https://doi.org/10.1007/s00431-003-1360-2 
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  • 2004 Journal Article
    ​ ​A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene​
    Dumitrescu, A. M.; Liao, X. H.; Best, T. B.; Brockmann, K. & Refetoff, S.​ (2004) 
    The American Journal of Human Genetics74(1) pp. 168​-175​.​ DOI: https://doi.org/10.1086/380999 
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  • 2004 Journal Article
    ​ ​Myelinopathia centralis diffusa (vanishing white matter disease) in a four-year-old boy​
    Sinzig, J. K.; Seitz, A.; Brockmann, K. & Konig, S.​ (2004) 
    Journal of Neuroradiology31(2) pp. 142​-144​.​ DOI: https://doi.org/10.1016/S0150-9861(04)96981-7 
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  • 2005 Journal Article
    ​ ​Moyamoya syndrome associated with hemolytic anemia due to Hb Alesha​
    Brockmann, K.; Stolpe, S.; Fels, C.; Khan, N.; Kulozik, A. E. & Pekrun, A.​ (2005) 
    Journal of Pediatric Hematology/Oncology27(8) pp. 436​-440​.​ DOI: https://doi.org/10.1097/01.mph.0000175409.21342.ea 
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  • 2005 Journal Article
    ​ ​X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene​
    Brockmann, K.; Dumitrescu, A. M.; Best, T. T.; Hanefeld, F. & Refetoff, S.​ (2005) 
    Journal of Neurology252(6) pp. 663​-666​.​ DOI: https://doi.org/10.1007/s00415-005-0713-3 
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  • 2005 Journal Article
    ​ ​Malignant ectomesenchymoma of the cerebrum. Case report and discussion of therapeutic options​
    Weiss, E.; Albrecht, C. F.; Herms, J.; Behnke-Mursch, J.; Pekrun, A.; Brockmann, K. & Hess, C. F.​ (2005) 
    European Journal of Pediatrics164(6) pp. 345​-349​.​ DOI: https://doi.org/10.1007/s00431-005-1646-7 
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  • 2005 Journal Article
    ​ ​Quantitative proton MRS of Pelizaeus-Merzbacher disease - Evidence of dys- and hypomyelination​
    Hanefeld, F.; Brockmann, K.; Pouwels, P. J. W.; Wilken, B.; Frahm, J. & Dechent, P.​ (2005) 
    Neurology65(5) pp. 701​-706​.​ DOI: https://doi.org/10.1212/01.wnl.0000174642.32187.20 
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  • 2006 Journal Article
    ​ ​Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces​
    Groeschel, S.; Brockmann, K.; Dechent, P.; Wilichowski, E.; Frahm, J. & Hanefeld, F.​ (2006) 
    Pediatric Neurology34(1) pp. 35​-40​.​ DOI: https://doi.org/10.1016/j.pediatrneurol.2005.05.012 
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  • 2007 Conference Abstract
    ​ ​Paroxysmal exertion-induced dyskinesia, hemolytic anemia and epilepsy: a novel syndrome caused by the combination of an energy deficit and electrolyte shift​
    Weber, Y. G.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Kempfle, J.; Blazevic, D. & Pekrun, A. et al.​ (2007)
    Epilepsia48 pp. 9​-10. ​5th Joint Meeting of the German, Austrian, and Swiss Sections of the International League Against Epilepsy​, Basle, SWITZERLAND.
    Oxford​: Blackwell Publishing.
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  • 2007 Conference Abstract
    ​ ​Paroxysmal exertion-induced dyskinesia, haemolytic anaemia and epilepsy: Energy deficit and electrolyte shift​
    Weber, Y.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Pekrun, A.; Kempfle, J. & Lehmann-Horn, F.​ (2007)
    Epilepsia48 ​27th International Epilepsy Congress​, Singapore, SINGAPORE.
    Oxford​: Blackwell Publishing.
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  • 2007 Review
    ​ ​Valproic acid-induced pancreatitis: 16 new cases and a review of the literature​
    Gerstner, T.; Buesing, D.; Bell, N.; Longin, E.; Kasper, J.-M.; Klostermann, W.& Hebing, B. et al.​ (2007)
    Journal of Gastroenterology, 42​(1) pp. 39​-48​.​
    Tokyo​: Springer. DOI: https://doi.org/10.1007/s00535-006-1961-4 
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  • 2007 Journal Article
    ​ ​Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood​
    Brockmann, K.; Becker, P.; Schreiber, G.; Neubert, K.; Brunner, E. & Boennemann, C.​ (2007) 
    Neuromuscular Disorders17(7) pp. 517​-523​.​ DOI: https://doi.org/10.1016/j.nmd.2007.03.015 
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  • 2007 Journal Article
    ​ ​Virchow-Robin spaces on magnetic resonance images of children with adrenoleukodystrophy​
    Groeschel, S.; Brockmann, K. & Hanefeld, F.​ (2007) 
    European Journal of Paediatric Neurology11(3) pp. 142​-145​.​ DOI: https://doi.org/10.1016/j.ejpn.2006.11.014 
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  • 2007 Journal Article
    ​ ​Quantitative proton MRS of cerebral metabolites in laminin alpha 2 chain deficiency​
    Brockmann, K.; Dechent, P.; Boennemann, C.; Schreiber, G.; Frahm, J. & Hanefeld, F.​ (2007) 
    Brain and Development29(6) pp. 357​-364​.​ DOI: https://doi.org/10.1016/j.braindev.2006.11.003 
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  • 2007 Journal Article
    ​ ​Hypomyelination with atrophy of the basal ganglia and cerebellum - Follow-up and pathology​
    van der Knaap, M. S.; Linnankivi, T.; Paetau, A.; Feigenbaum, A.; Wakusawa, K.; Haginoya, K. & Kohler, W. et al.​ (2007) 
    Neurology69(2) pp. 166​-171​.​ DOI: https://doi.org/10.1212/01.wnl.0000265592.74483.a6 
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  • 2008 Journal Article
    ​ ​Monozygotic twins discordant for Proteus syndrome​
    Brockmann, K.; Happle, R.; Oeffner, F. & Koenig, A.​ (2008) 
    American Journal of Medical Genetics Part A146A(16) pp. 2122​-2125​.​ DOI: https://doi.org/10.1002/ajmg.a.32417 
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  • 2008 Journal Article
    ​ ​GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak​
    Weber, Y. G.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Kempfle, J.; Maljevic, S. & Margari, L. et al.​ (2008) 
    Journal of Clinical Investigation118(6) pp. 2157​-2168​.​ DOI: https://doi.org/10.1172/JCI34438 
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  • 2008 Journal Article
    ​ ​Frequency of GCH1 deletions in dopa-responsive dystonia​
    Zirn, B.; Steinberger, D.; Troidl, C.; Brockmann, K.; von der Hagen, M.; Feiner, C. & Henkel, A. et al.​ (2008) 
    Journal of Neurology Neurosurgery & Psychiatry79(2) pp. 183​-186​.​ DOI: https://doi.org/10.1136/jnnp.2007.128413 
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  • 2009 Conference Abstract
    ​ ​PAROXYSMAL EXERTION-INDUCED DYSKINESIA, HEMOLYTIC ANEMIA AND EPILEPSY: ENERGY DEFICIT AND ELECTROLYTE SHIFT​
    Storch, A.; Weber, Y.; Wuttke, T. V.; Brockmann, K.; Pekrun, A.; Kempfle, J. & Lehmann-Horn, F. et al.​ (2009)
    Epilepsia50 pp. 74​-75. , Berlin, GERMANY.
    Malden​: Wiley-blackwell Publishing, Inc.
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  • 2009 Conference Abstract
    ​ ​GLUT1 MUTATIONS IN PATIENTS WITH PAROXYSMAL EXERTION-INDUCED DYSKINESIA​
    Weber, Y. G.; Storch, A.; Wuttke, T. V.; Brockmann, K.; Kempfle, J.; Maljevic, S. & Margari, L. et al.​ (2009)
    Epilepsia50 ​6th Joint Meeting of the German, Austrian, and Swiss Sections of the International-League-Against-Epilepsy​, Rostock, GERMANY.
    Malden​: Wiley-blackwell Publishing, Inc.
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  • 2009 Conference Paper
    ​ ​The expanding phenotype of GLUT1-deficiency syndrome​
    Brockmann, K.​ (2009)
    Brain and Development31(7) pp. 545​-552. ​3rd German-Japanese Symposium on Pediatric Neurology​, Munich, GERMANY.
    Amsterdam​: Elsevier Science Bv. DOI: https://doi.org/10.1016/j.braindev.2009.02.008 
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  • 2009 Journal Article
    ​ ​Overlap of Moebius and Oromandibular Limb Hypogenesis Syndrome With Gastroschisis and Pulmonary Hypoplasia​
    Brockmann, K.; Backes, H.; Auber, B.; Kriebel, T.; Stellmer, F. & Zoll, B.​ (2009) 
    American Journal of Medical Genetics Part A149A(12) pp. 2832​-2837​.​ DOI: https://doi.org/10.1002/ajmg.a.33111 
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  • 2009 Journal Article | 
    ​ ​Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation​
    Auber, B.; Bruemmer, V.; Zoll, B.; Burfeind, P.; Boehm, D.; Liehr, T. & Brockmann, K. et al.​ (2009) 
    Molecular Cytogenetics2 art. 10​.​ DOI: https://doi.org/10.1186/1755-8166-2-10 
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  • 2009 Journal Article
    ​ ​Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response​
    Rice, G. I.; Bond, J.; Asipu, A.; Brunette, R. L.; Manfield, I. W.; Carr, I. M. & Fuller, J. C. et al.​ (2009) 
    Nature Genetics41(7) pp. 829​-U89​.​ DOI: https://doi.org/10.1038/ng.373 
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  • 2010 Journal Article
    ​ ​Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria​
    O'Driscoll, M. C.; Daly, S. B.; Urquhart, J. E.; Black, G. C. M.; Pilz, D. T.; Brockmann, K. & McEntagart, M. et al.​ (2010) 
    The American Journal of Human Genetics87(3) pp. 354​-364​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.07.012 
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  • 2010 Journal Article | Letter Note
    ​ ​Identification of a De Novo Mutation in SPG11​
    Denora, P. S.; Brockmann, K.; Ciccolella, M.; Truchetto, J.; Stevanin, G. & Santorelli, F. M.​ (2010) 
    Movement Disorders25(4) pp. 501​-503​.​ DOI: https://doi.org/10.1002/mds.22964 
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  • 2010 Journal Article
    ​ ​Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy​
    Cirak, S.; von Deimling, F.; Sachdev, S.; Errington, W. J.; Herrmann, R.; Boennemann, C. & Brockmann, K. et al.​ (2010) 
    Brain133 pp. 2123​-2135​.​ DOI: https://doi.org/10.1093/brain/awq108 
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  • 2011 Journal Article | 
    ​ ​A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome​
    Lindhurst, M. J.; Sapp, J. C.; Teer, J. K.; Johnston, J. J.; Finn, E. M.; Peters, K. & Turner, J. et al.​ (2011) 
    New England Journal of Medicine365(7) pp. 611​-619​.​ DOI: https://doi.org/10.1056/NEJMoa1104017 
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  • 2011 Journal Article
    ​ ​Familial Intellectual Disability and Autistic Behavior Caused by a Small FMR2 Gene Deletion​
    Stettner, G. M.; Shoukier, M.; Hoeger, C.; Brockmann, K. & Auber, B.​ (2011) 
    American Journal of Medical Genetics Part A155A(8) pp. 2003​-2007​.​ DOI: https://doi.org/10.1002/ajmg.a.34122 
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  • 2011 Journal Article | Letter Note
    ​ ​Towards a more palatable treatment for Glut1 deficiency syndrome​
    Brockmann, K.​ (2011) 
    Developmental Medicine & Child Neurology53(7) pp. 580​-581​.​ DOI: https://doi.org/10.1111/j.1469-8749.2011.03946.x 
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  • 2011 Journal Article
    ​ ​Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia​
    Namavar, Y.; Barth, P. G.; Kasher, P. R.; van Ruissen, F.; Brockmann, K.; Bernert, G. & Writzl, K. et al.​ (2011) 
    Brain134 pp. 143​-156​.​ DOI: https://doi.org/10.1093/brain/awq287 
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  • 2011 Journal Article
    ​ ​Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency​
    Danhauser, K.; Iuso, A.; Haack, T. B.; Freisinger, P.; Brockmann, K.; Mayr, J. A. & Meitinger, T. et al.​ (2011) 
    Molecular Genetics and Metabolism103(2) pp. 161​-166​.​ DOI: https://doi.org/10.1016/j.ymgme.2011.03.004 
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  • 2012 Journal Article
    ​ ​A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy​
    Shoukier, M.; Schröder, J.; Zoll, B.; Burfeind, P.; Freiberg, C.; Klinge, L. & Kriebel, T. et al.​ (2012) 
    American Journal of Medical Genetics Part A158A(2) pp. 429​-433​.​ DOI: https://doi.org/10.1002/ajmg.a.34427 
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  • 2012 Journal Article
    ​ ​Early-Onset LBSL: How Severe Does It Get?​
    Steenweg, M. E.; van Berge, L.; van Berkel, C. G. M.; de Coo, I. F. M.; Temple, I. K.; Brockmann, K. & Mendonca, C. I. P. et al.​ (2012) 
    Neuropediatrics43(6) pp. 332​-338​.​ DOI: https://doi.org/10.1055/s-0032-1329395 
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  • 2012 Journal Article
    ​ ​A 16q12 Microdeletion in a Boy With Severe Psychomotor Delay, Craniofacial Dysmorphism, Brain and Limb Malformations, and a Heart Defect​
    Shoukier, M.; Wickert, J.; Schroeder, J.; Bartels, I.; Auber, B.; Zoll, B. & Salinas-Riester, G. et al.​ (2012) 
    American Journal of Medical Genetics Part A158A(1) pp. 229​-235​.​ DOI: https://doi.org/10.1002/ajmg.a.34387 
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  • 2012 Journal Article
    ​ ​PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures​
    Schubert, J.; Paravidino, R.; Becker, F.; Berger, A.; Bebek, N.; Bianchi, A. & Brockmann, K. et al.​ (2012) 
    Human Mutation33(10) pp. 1439​-1443​.​ DOI: https://doi.org/10.1002/humu.22126 
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  • 2013 Conference Abstract
    ​ ​Collagen type XII: A new congenital matrix and muscle disease​
    Zou, Y.; Zwolanek, D.; Hu, Y.; Schreiber, G.; Brockmann, K.; Izu, Y. & Tian, Z. et al.​ (2013)
    Neuromuscular Disorders23(9-10) pp. 739​-740. , CA.
    Oxford​: Pergamon-elsevier Science Ltd. DOI: https://doi.org/10.1016/j.nmd.2013.06.380 
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  • 2013 Review
    ​ ​Episodic Movement Disorders: From Phenotype to Genotype and Back​
    Brockmann, K.​ (2013)
    Current Neurology and Neuroscience Reports, 13​(10).​
    Springer. DOI: https://doi.org/10.1007/s11910-013-0379-7 
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  • 2013 Journal Article
    ​ ​Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations​
    Rudnik-Schoeneborn, S.; Senderek, J.; Jen, J. C.; Houge, G.; Seeman, P.; Puchmajerova, A. & Graul-Neumann, L. et al.​ (2013) 
    Neurology80(5) pp. 438​-446​.​ DOI: https://doi.org/10.1212/WNL.0b013e31827f0f66 
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article
    ​ ​Acute onset of adult Alexander disease​
    Schmidt, H.; Kretzschmar, B.; Lingor, P.; Pauli, S.; Schramm, P.; Otto, M. & Ohlenbusch, A. et al.​ (2013) 
    Journal of the Neurological Sciences331(1-2) pp. 152​-154​.​ DOI: https://doi.org/10.1016/j.jns.2013.05.006 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article
    ​ ​Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum​
    Thorwarth, A.; Schnittert-Huebener, S.; Schrumpf, P.; Mueller, I.; Jyrch, S.; Dame, C. & Biebermann, H. et al.​ (2014) 
    Journal of Medical Genetics51(6) pp. 375​-387​.​ DOI: https://doi.org/10.1136/jmedgenet-2013-102248 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | 
    ​ ​Intragenic duplication of EHMT1 gene results in Kleefstra syndrome​
    Schwaibold, E. M. C.; Smogavec, M. ; Hobbiebrunken, E.; Winter, L.; Zoll, B.; Burfeind, P. & Brockmann, K. et al.​ (2014) 
    Molecular Cytogenetics7 art. 74​.​ DOI: https://doi.org/10.1186/s13039-014-0074-7 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article
    ​ ​The LYR Factors SDHAF1 and SDHAF3 Mediate Maturation of the Iron-Sulfur Subunit of Succinate Dehydrogenase​
    Na, U. N.; Yu, W.; Cox, J.; Bricker, D. K.; Brockmann, K.; Rutter, J. & Thummel, C. S. et al.​ (2014) 
    Cell Metabolism20(2) pp. 253​-266​.​ DOI: https://doi.org/10.1016/j.cmet.2014.05.014 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article
    ​ ​Glycine receptor antibodies in a boy with focal epilepsy and episodic behavioral disorder​
    Wuerfel, E.; Bien, C. G.; Vincent, A.; Woodhall, M. & Brockmann, K.​ (2014) 
    Journal of the Neurological Sciences343(1-2) pp. 180​-182​.​ DOI: https://doi.org/10.1016/j.jns.2014.05.014 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | 
    ​ ​High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.​
    Spiegler, S.; Najm, J.; Liu, J.; Gkalympoudis, S.; Schröder, W.; Borck, G. & Brockmann, K. et al.​ (2014) 
    Molecular genetics & genomic medicine2(2) pp. 176​-185​.​ DOI: https://doi.org/10.1002/mgg3.60 
    Details  DOI  PMID  PMC 
  • 2015 Conference Abstract
    ​ ​Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene​
    Brauns, B.; Schubert, S.; Lehmann, J.; Laspe, P.; Koerner, A.; Brockmann, K. & Schoen, M. P. et al.​ (2015)
    JDDG Journal der Deutschen Dermatologischen Gesellschaft13 
    Hoboken​: Wiley-blackwell.
    Details  WoS 
  • 2015 Journal Article
    ​ ​Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia​
    Schaefer, N.; Kluck, C. J.; Price, K. L.; Meiselbach, H.; Vornberger, N.; Schwarzinger, S. & Hartmann, S. et al.​ (2015) 
    Journal of Neuroscience35(1) pp. 422​-437​.​ DOI: https://doi.org/10.1523/JNEUROSCI.1509-14.2015 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Conference Abstract
    ​ ​Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene​
    Brauns, B.; Schubert, S.; Lehmann, J.; Laspe, P.; Koerner, A.; Brockmann, K. & Schoen, M. P. et al.​ (2016)
    Experimental Dermatology25(3) ​43rd Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung-e-V (ADF)​, Vienna, AUSTRIA.
    Hoboken​: Wiley-blackwell.
    Details  WoS 
  • 2016 Journal Article | 
    ​ ​Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study​
    Wente, S.; Schroeder, S.; Buckard, J. A.; Buettel, H.-M.; von Deimling, F.; Diener, W. & Haeussler, M. et al.​ (2016) 
    Orphanet Journal of Rare Diseases11 art. 104​.​ DOI: https://doi.org/10.1186/s13023-016-0486-z 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article
    ​ ​Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum​
    Smogavec, M.; Cleall, A.; Hoyer, J.; Lederer, D.; Nassogne, M.-C.; Palmer, E. E. & Deprez, M. et al.​ (2016) 
    Journal of Medical Genetics53(12) pp. 820​-827​.​ DOI: https://doi.org/10.1136/jmedgenet-2016-103880 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article
    ​ ​Transition of Adolescents with Chronic Neurologic Disorders into Adult Health Care​
    Albers, L.; Koch, E.-L.; Lingen, M.; von Kries, R. & Brockmann, K.​ (2016) 
    Klinische Pädiatrie228(5) pp. 251​-256​.​ DOI: https://doi.org/10.1055/s-0042-111690 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article
    ​ ​Magnetic Resonance Imaging Spectrum of Succinate Dehydrogenase-Related Infantile Leukoencephalopathy​
    Helman, G.; Caldovic, L.; Whitehead, M. T.; Simons, C.; Brockmann, K.; Edvardson, S. & Bai, R. et al.​ (2016) 
    Annals of Neurology79(3) pp. 379​-386​.​ DOI: https://doi.org/10.1002/ana.24572 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article | 
    ​ ​Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)​
    Micalizzi, A.; Poretti, A.; Romani, M.; Ginevrino, M.; Mazza, T.; Aiello, C. & Zanni, G. et al.​ (2016) 
    European Journal of Human Genetics24(9) pp. 1262​-1267​.​ DOI: https://doi.org/10.1038/ejhg.2016.19 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article | Letter Note
    ​ ​Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene​
    Brauns, B.; Schubert, S.; Lehmann, J.; Laspe, P.; Koerner, A.; Brockmann, K. & Schoen, M. P. et al.​ (2016) 
    Photodermatology Photoimmunology & Photomedicine32(2) pp. 110​-112​.​ DOI: https://doi.org/10.1111/phpp.12225 
    Details  DOI  PMID  PMC  WoS 
  • 2019 Journal Article | 
    ​ ​Structural brain anomalies in patients with FOXG 1 syndrome and in Foxg1+/− mice​
    Pringsheim, M.; Mitter, D.; Schröder, S.; Warthemann, R.; Plümacher, K.; Kluger, G. & Baethmann, M. et al.​ (2019) 
    Annals of Clinical and Translational Neurology6(4) pp. 655​-668​.​ DOI: https://doi.org/10.1002/acn3.735 
    Details  DOI  PMID  PMC 
  • 2020 Journal Article | 
    ​ ​The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood​
    Döring, J. H.; Saffari, A.; Bast, T.; Brockmann, K.; Ehrhardt, L.; Fazeli, W. & Janzarik, W. G. et al.​ (2020) 
    Biomedicines8(11) pp. 456​.​ DOI: https://doi.org/10.3390/biomedicines8110456 
    Details  DOI 
  • 2020 Journal Article | Research Paper | 
    ​ ​A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome​
    Drivas, T. G.; Li, D.; Nair, D.; Alaimo, J. T.; Alders, M.; Altmüller, J. & Barakat, T. S. et al.​ (2020) 
    European Journal of Human Genetics28(10) pp. 1422​-1431​.​ DOI: https://doi.org/10.1038/s41431-020-0654-4 
    Details  DOI  PMID  PMC 
  • 2020 Journal Article | 
    ​ ​A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome​
    Koehler, K.; Schuelke, M.; Hell, A. K. ; Huebner, A.; Schittkowski, M. & Brockmann, K.​ (2020) 
    American Journal of Medical Genetics. Part A182(3) pp. 570​-575​.​ DOI: https://doi.org/10.1002/ajmg.a.61435 
    Details  DOI  PMID  PMC 
  • 2021 Journal Article | Research Paper | 
    ​ ​Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state​
    Yigit, G.; Sheffer, R.; Daana, M.; Li, Y.; Kaygusuz, E.; Mor-Shakad, H. & Altmüller, J. et al.​ (2021) 
    Journal of Medical Genetics59(6) pp. 549​-553​.​ DOI: https://doi.org/10.1136/jmedgenet-2021-107769 
    Details  DOI  PMID  PMC 
  • 2021 Journal Article | Research Paper | 
    ​ ​Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy​
    Reinert, M.-C.; Pacheu-Grau, D.; Catarino, C. B.; Klopstock, T.; Ohlenbusch, A.; Schittkowski, M. & Wilichowski, E. et al.​ (2021) 
    Orphanet Journal of Rare Diseases16(1) art. 64​.​ DOI: https://doi.org/10.1186/s13023-021-01690-y 
    Details  DOI  PMID  PMC 
  • 2022 Journal Article | 
    ​ ​Health-Related Quality of Life after Pediatric Traumatic Brain Injury: A Qualitative Comparison of Perspectives of Children and Adolescents after TBI and a Comparison Group without a History of TBI​
    Timmermann, D.; Krenz, U.; Schmidt, S.; Lendt, M.; Salewski, C.; Brockmann, K. & von Steinbüchel, N.​ (2022) 
    Journal of Clinical Medicine11(22) pp. 6783​.​ DOI: https://doi.org/10.3390/jcm11226783 
    Details  DOI 
  • 2023 Journal Article
    ​ ​Moebius syndrome and gastroschisis—The second case of a rare association​
    Brockmann, K. & Kaulfuß, S.​ (2023) 
    American Journal of Medical Genetics Part A, art. ajmg.a.63411​.​ DOI: https://doi.org/10.1002/ajmg.a.63411 
    Details  DOI 
  • 2023 Journal Article | 
    ​ ​Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8–12 years​
    Zeldovich, M.; Krol, L.; Timmermann, D.; Krenz, U.; Arango-Lasprilla, J. C.; Gioia, G. & Brockmann, K. et al.​ (2023) 
    Frontiers in Neurology14.​ DOI: https://doi.org/10.3389/fneur.2023.1266828 
    Details  DOI 
  • 2023 Journal Article | 
    ​ ​Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome​
    Serpieri, V.; Mortarini, G.; Loucks, H.; Biagini, T.; Micalizzi, A.; Palmieri, I. & Dempsey, J. C et al.​ (2023) 
    Journal of Medical Genetics,.​ DOI: https://doi.org/10.1136/jmg-2022-108725 
    Details  DOI 
  • 2023 Journal Article | 
    ​ ​A Multidimensional Approach to Assessing Factors Impacting Health-Related Quality of Life after Pediatric Traumatic Brain Injury​
    von Steinbuechel, N.; Krenz, U.; Bockhop, F.; Koerte, I. K.; Timmermann, D.; Cunitz, K. & Zeldovich, M. et al.​ (2023) 
    Journal of Clinical Medicine12(12) pp. 3895​.​ DOI: https://doi.org/10.3390/jcm12123895 
    Details  DOI 
  • 2024 Journal Article
    ​ ​Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases​
    Graessner, H.; Reinhard, C.; Bäumer, T.; Baumgärtner, A.; Brockmann, K.; Brüggemann, N. & Bültmann, E. et al.​ (2024) 
    Orphanet Journal of Rare Diseases19(1).​ DOI: https://doi.org/10.1186/s13023-024-03023-1 
    Details  DOI 
  • 2024 Journal Article | Erratum
    ​ ​Corrigendum: Psychometric evaluation and reference values for the German Postconcussion Symptom Inventory (PCSI-SR8) in children aged 8–12 years​
    Zeldovich, M.; Krol, L.; Timmermann, D.; Krenz, U.; Arango-Lasprilla, J. C.; Gioia, G. & Brockmann, K. et al.​ (2024) 
    Frontiers in Neurology15 art. 1372640​.​ DOI: https://doi.org/10.3389/fneur.2024.1372640 
    Details  DOI 
  • 2024 Journal Article | 
    ​ ​Applicability and clinical utility of the German rivermead post-concussion symptoms questionnaire in proxies of children after traumatic brain injury: an instrument validation study​
    Bockhop, F.; Greving, S.; Zeldovich, M.; Krenz, U.; Cunitz, K.; Timmermann, D. & Kieslich, M. et al.​ (2024) 
    BMC Neurology24(1) art. 133​.​ DOI: https://doi.org/10.1186/s12883-024-03587-2 
    Details  DOI 

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